ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1935+1G>C

dbSNP: rs1711518217
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171734 SCV001334567 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290609 SCV002580189 likely pathogenic Autosomal dominant optic atrophy classic form 2022-06-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002290609 SCV004027668 pathogenic Autosomal dominant optic atrophy classic form 2023-05-08 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_SUP,PM2_SUP

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